BRAIN and NERVE－神経研究の進歩74巻11号

2022年11月発行

特集 RFC1遺伝子関連スペクトラム障害

慢性咳嗽と機序

著者： 土井宏¹ 田中章景¹

所属機関： ¹横浜市立大学大学院医学研究科神経内科学・脳卒中医学

ページ範囲：P.1267 - P.1271

文献概要

CANVAS（Cerebellar ataxia with neuropathy and vestibular areflexia syndrome）に代表される，RFC1遺伝子関連スペクトラム障害の患者の少なくとも6割以上に，発作性の乾性咳嗽が認められることが判明し，慢性咳嗽は本疾患の診断のキーポイントとなる重要な所見として認識されるようになった。咳嗽は初発症状となることが多く，症例によっては失調症状や感覚障害などの神経症状に30年以上先行する。病態機序は不明な点も多いが，咳嗽反射の求心路である迷走神経の障害，あるいは小脳障害が咳嗽発症に寄与している可能性がある。

参考文献

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